esv3901774
- Organism: Homo sapiens
- Study:estd225 (Magnusson et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:49,970
- Publication(s):Magnusson et al. 2016
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2518 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2518 SVs from 95 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3901774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,319,650 |
| esv3901774 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 78,979,398 | 79,029,367 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25820901 | copy number gain | SNP array | SNP genotyping analysis | 3 |
| essv25820903 | copy number gain | SNP array | SNP genotyping analysis | 3 |
| essv25820904 | copy number gain | SNP array | SNP genotyping analysis | 3 |
| essv25820905 | copy number gain | SNP array | SNP genotyping analysis | 3 |
| essv25820906 | copy number gain | SNP array | SNP genotyping analysis | 3 |
| essv25820907 | copy number gain | SNP array | SNP genotyping analysis | 3 |
| essv25820908 | copy number gain | SNP array | SNP genotyping analysis | 3 |
| essv25820909 | copy number gain | SNP array | SNP genotyping analysis | 3 |
| essv25820910 | copy number gain | SNP array | SNP genotyping analysis | 3 |
| essv25820911 | copy number gain | SNP array | SNP genotyping analysis | 3 |
| essv25820912 | copy number gain | SNP array | SNP genotyping analysis | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25820901 | Remapped | Perfect | NC_000006.12:g.782 69681_78319650dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,319,650 |
| essv25820903 | Remapped | Perfect | NC_000006.12:g.782 69681_78319650dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,319,650 |
| essv25820904 | Remapped | Perfect | NC_000006.12:g.782 69681_78319650dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,319,650 |
| essv25820905 | Remapped | Perfect | NC_000006.12:g.782 69681_78319650dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,319,650 |
| essv25820906 | Remapped | Perfect | NC_000006.12:g.782 69681_78319650dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,319,650 |
| essv25820907 | Remapped | Perfect | NC_000006.12:g.782 69681_78319650dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,319,650 |
| essv25820908 | Remapped | Perfect | NC_000006.12:g.782 69681_78319650dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,319,650 |
| essv25820909 | Remapped | Perfect | NC_000006.12:g.782 69681_78319650dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,319,650 |
| essv25820910 | Remapped | Perfect | NC_000006.12:g.782 69681_78319650dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,319,650 |
| essv25820911 | Remapped | Perfect | NC_000006.12:g.782 69681_78319650dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,319,650 |
| essv25820912 | Remapped | Perfect | NC_000006.12:g.782 69681_78319650dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,319,650 |
| essv25820901 | Submitted genomic | NC_000006.11:g.789 79398_79029367dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,979,398 | 79,029,367 | ||
| essv25820903 | Submitted genomic | NC_000006.11:g.789 79398_79029367dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,979,398 | 79,029,367 | ||
| essv25820904 | Submitted genomic | NC_000006.11:g.789 79398_79029367dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,979,398 | 79,029,367 | ||
| essv25820905 | Submitted genomic | NC_000006.11:g.789 79398_79029367dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,979,398 | 79,029,367 | ||
| essv25820906 | Submitted genomic | NC_000006.11:g.789 79398_79029367dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,979,398 | 79,029,367 | ||
| essv25820907 | Submitted genomic | NC_000006.11:g.789 79398_79029367dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,979,398 | 79,029,367 | ||
| essv25820908 | Submitted genomic | NC_000006.11:g.789 79398_79029367dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,979,398 | 79,029,367 | ||
| essv25820909 | Submitted genomic | NC_000006.11:g.789 79398_79029367dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,979,398 | 79,029,367 | ||
| essv25820910 | Submitted genomic | NC_000006.11:g.789 79398_79029367dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,979,398 | 79,029,367 | ||
| essv25820911 | Submitted genomic | NC_000006.11:g.789 79398_79029367dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,979,398 | 79,029,367 | ||
| essv25820912 | Submitted genomic | NC_000006.11:g.789 79398_79029367dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,979,398 | 79,029,367 |